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MBE Advance Access originally published online on June 8, 2005
Molecular Biology and Evolution 2005 22(10):1964-1975; doi:10.1093/molbev/msi185
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© The Author 2005. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oupjournals.org

Research Article

High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations

Marijana Pericic*,1, Lovorka Barac Lauc*,1, Irena Martinovic Klaric*, Siiri Rootsi{dagger}, Branka Janicijevic*, Igor Rudan{ddagger},§, Rifet Terzic||, Ivanka Colak, Ante Kvesic, Dan Popovic*, Ana Sijacki#, Ibrahim Behluli**, Dobrivoje Dordevic{dagger}{dagger}, Ljudmila Efremovska{dagger}{dagger}, Dorde D. Bajec#, Branislav D. Stefanovic#, Richard Villems{dagger} and Pavao Rudan*

* Institute for Anthropological Research, Amruseva 8, 10000 Zagreb, Croatia; {dagger} Estonian Biocentre, University of Tartu, Tartu, Estonia; {ddagger} School of Public Health Andrija Stampar, University of Zagreb Medical School, Zagreb, Croatia; § University of Edinburgh Medical School, Edinburgh, Scotland; || Medical Faculty, University of Tuzla, Tuzla, Bosnia and Herzegovina; Clinical Hospital Center "Bijeli Brijeg," Mostar, Bosnia and Herzegovina; # Emergency Unit of Clinical Center of Serbia, Belgrade, Serbia and Montenegro; ** Medical Faculty, University of Prishtina, Prishtina, Kosovo; and {dagger}{dagger} Medical Faculty, University of Skopje, Skopje, Macedonia

E-mail: mpericic{at}luka.inantro.hr

The extent and nature of southeastern Europe (SEE) paternal genetic contribution to the European genetic landscape were explored based on a high-resolution Y chromosome analysis involving 681 males from seven populations in the region. Paternal lineages present in SEE were compared with previously published data from 81 western Eurasian populations and 5,017 Y chromosome samples. The finding that five major haplogroups (E3b1, I1b* (xM26), J2, R1a, and R1b) comprise more than 70% of SEE total genetic variation is consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European, and particularly Slavic, paternal genetic heritage. Contemporary Slavic paternal gene pool, mostly characterized by the predominance of R1a and I1b* (xM26) and scarcity of E3b1 lineages, is a result of two major prehistoric gene flows with opposite directions: the post-Last Glacial Maximum R1a expansion from east to west, the Younger Dryas-Holocene I1b* (xM26) diffusion out of SEE in addition to subsequent R1a and I1b* (xM26) putative gene flows between eastern Europe and SEE, and a rather weak extent of E3b1 diffusion toward regions nowadays occupied by Slavic-speaking populations.

Key Words: phylogenetic analysis • Y chromosomal binary haplogroups • southeastern Europe (SEE)


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